Associated Papers
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
β-globin genes: mutation hot-spots in the global thalassemia belt.
Kumar R et al.
Hemoglobin, 2015
Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation.
Angalena R et al.
International Journal of Laboratory Hematology, 2012
A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).
Ghedira ES et al.
Hemoglobin, 2011
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